Canonical Allele Identifier: CA361666926

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407124A>C (hg19) ; chr5:g.149027561A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027561A>C , CM000667.2:g.149027561A>C	GRCh38
NC_000005.9:g.148407124A>C , CM000667.1:g.148407124A>C	GRCh37
NC_000005.8:g.148387317A>C	NCBI36
NG_007947.2:g.40614T>G , LRG_269:g.40614T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2067T>G
ENST00000515425.6:c.2171T>G MANE Select	ENSP00000423660.1:p.Phe724Cys
ENST00000675793.1:c.*1455T>G	ENSP00000502039.1:n.*1455T>G
ENST00000676056.1:c.*1681T>G	ENSP00000501827.1:n.*1681T>G
ENST00000323829.9:c.*1559T>G	ENSP00000313025.5:n.*1559T>G
ENST00000504517.5:c.1701T>G	ENSP00000421779.1:n.1701T>G
ENST00000504690.5:c.2171T>G	ENSP00000425627.1:p.Phe724Cys
ENST00000510779.1:c.1221T>G
ENST00000511307.5:c.*1951T>G	ENSP00000421420.1:n.*1951T>G
ENST00000512049.5:c.2150T>G	ENSP00000421860.1:p.Phe717Cys
ENST00000513604.5:c.*1559T>G	ENSP00000423111.1:n.*1559T>G
ENST00000515425.5:c.2171T>G	ENSP00000423660.1:p.Phe724Cys
NM_024577.3:c.2171T>G , LRG_269t1:c.2171T>G	NP_078853.2:p.Phe724Cys
NM_024577.4:c.2171T>G MANE Select	NP_078853.2:p.Phe724Cys